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Q9Y672

- ALG6_HUMAN

UniProt

Q9Y672 - ALG6_HUMAN

Protein

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Adds the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Man9GlcNAc(2)-PP-Dol.

    Catalytic activityi

    Dolichyl beta-D-glucosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

    Pathwayi

    GO - Molecular functioni

    1. glucosyltransferase activity Source: MGI

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    3. post-translational protein modification Source: Reactome
    4. protein N-linked glycosylation Source: UniProtKB
    5. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT57. Glycosyltransferase Family 57.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC:2.4.1.267)
    Alternative name(s):
    Asparagine-linked glycosylation protein 6 homolog
    Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
    Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
    Gene namesi
    Name:ALG6
    ORF Names:My046
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:23157. ALG6.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311Y → H in CDG1C. 2 Publications
    Corresponds to variant rs35383149 [ dbSNP | Ensembl ].
    VAR_022511
    Natural varianti170 – 1701S → I in CDG1C. 1 Publication
    VAR_022512
    Natural varianti227 – 2271G → E in CDG1C. 1 Publication
    VAR_022513
    Natural varianti299 – 2991Missing in CDG1C. 1 Publication
    VAR_013441
    Natural varianti308 – 3081S → R in CDG1C. 1 Publication
    VAR_022514
    Natural varianti333 – 3331A → V in CDG1C. 3 Publications
    VAR_013443
    Natural varianti444 – 4441Missing in CDG1C. 1 Publication
    VAR_022515
    Natural varianti478 – 4781S → P in CDG1C. 1 Publication
    VAR_013444

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi603147. phenotype.
    Orphaneti79320. ALG6-CDG.
    PharmGKBiPA134925619.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 507507Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferasePRO_0000174156Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y672.
    PaxDbiQ9Y672.
    PRIDEiQ9Y672.

    PTM databases

    PhosphoSiteiQ9Y672.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y672.
    BgeeiQ9Y672.
    CleanExiHS_ALG6.
    GenevestigatoriQ9Y672.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000360149.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y672.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei115 – 13521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei144 – 16421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei173 – 19321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei227 – 24721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei324 – 34421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei362 – 38221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei388 – 40821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei438 – 45821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei473 – 49321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG287760.
    HOGENOMiHOG000195048.
    HOVERGENiHBG024331.
    KOiK03848.
    OrthoDBiEOG70088D.
    PhylomeDBiQ9Y672.
    TreeFamiTF314522.

    Family and domain databases

    InterProiIPR004856. Glyco_trans_ALG6/ALG8.
    [Graphical view]
    PANTHERiPTHR12413. PTHR12413. 1 hit.
    PfamiPF03155. Alg6_Alg8. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y672-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN    50
    LPVKQWYFNS SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS 100
    RGYESQAHKL FMRTTVLIAD LLIYIPAVVL YCCCLKEIST KKKIANALCI 150
    LLYPGLILID YGHFQYNSVS LGFALWGVLG ISCDCDLLGS LAFCLAINYK 200
    QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA SFVLCWLPFF 250
    TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM 300
    SFCFTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL 350
    VSLPVCLVLS EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA 400
    CVTSFSIFEK TSEEELQLKS FSISVRKYLP CFTFLSRIIQ YLFLISVITM 450
    VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL NFLFFLVYFN IIIMWDSKSG 500
    RNQKKIS 507
    Length:507
    Mass (Da):58,181
    Last modified:November 1, 1999 - v1
    Checksum:i6558E0A318597D03
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti111 – 1111F → L in AAG43163. 1 PublicationCurated
    Sequence conflicti374 – 3741T → P in AAG43163. 1 PublicationCurated
    Sequence conflicti394 – 3941T → P in AAG43163. 1 PublicationCurated
    Sequence conflicti457 – 4571T → A in AAG43163. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti131 – 1311Y → H in CDG1C. 2 Publications
    Corresponds to variant rs35383149 [ dbSNP | Ensembl ].
    VAR_022511
    Natural varianti170 – 1701S → I in CDG1C. 1 Publication
    VAR_022512
    Natural varianti226 – 2261K → N.
    Corresponds to variant rs35604168 [ dbSNP | Ensembl ].
    VAR_055493
    Natural varianti227 – 2271G → E in CDG1C. 1 Publication
    VAR_022513
    Natural varianti299 – 2991Missing in CDG1C. 1 Publication
    VAR_013441
    Natural varianti304 – 3041F → S Common polymorphism; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth; may exacerbate the clinical severity of patients with CDG1A. 4 Publications
    Corresponds to variant rs4630153 [ dbSNP | Ensembl ].
    VAR_013442
    Natural varianti308 – 3081S → R in CDG1C. 1 Publication
    VAR_022514
    Natural varianti333 – 3331A → V in CDG1C. 3 Publications
    VAR_013443
    Natural varianti444 – 4441Missing in CDG1C. 1 Publication
    VAR_022515
    Natural varianti478 – 4781S → P in CDG1C. 1 Publication
    VAR_013444

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF102851 mRNA. Translation: AAD41466.1.
    AF063604 mRNA. Translation: AAG43163.1.
    AK022700 mRNA. Translation: BAG51104.1.
    AL592218, AL049636 Genomic DNA. Translation: CAI18961.1.
    AL049636, AL592218 Genomic DNA. Translation: CAI22829.1.
    CH471059 Genomic DNA. Translation: EAX06571.1.
    BC001253 mRNA. Translation: AAH01253.1.
    CCDSiCCDS30735.1.
    RefSeqiNP_037471.2. NM_013339.3.
    UniGeneiHs.258501.

    Genome annotation databases

    EnsembliENST00000371108; ENSP00000360149; ENSG00000088035.
    GeneIDi29929.
    KEGGihsa:29929.
    UCSCiuc021oof.1. human.

    Polymorphism databases

    DMDMi21263380.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF102851 mRNA. Translation: AAD41466.1 .
    AF063604 mRNA. Translation: AAG43163.1 .
    AK022700 mRNA. Translation: BAG51104.1 .
    AL592218 , AL049636 Genomic DNA. Translation: CAI18961.1 .
    AL049636 , AL592218 Genomic DNA. Translation: CAI22829.1 .
    CH471059 Genomic DNA. Translation: EAX06571.1 .
    BC001253 mRNA. Translation: AAH01253.1 .
    CCDSi CCDS30735.1.
    RefSeqi NP_037471.2. NM_013339.3.
    UniGenei Hs.258501.

    3D structure databases

    ProteinModelPortali Q9Y672.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000360149.

    Protein family/group databases

    CAZyi GT57. Glycosyltransferase Family 57.

    PTM databases

    PhosphoSitei Q9Y672.

    Polymorphism databases

    DMDMi 21263380.

    Proteomic databases

    MaxQBi Q9Y672.
    PaxDbi Q9Y672.
    PRIDEi Q9Y672.

    Protocols and materials databases

    DNASUi 29929.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371108 ; ENSP00000360149 ; ENSG00000088035 .
    GeneIDi 29929.
    KEGGi hsa:29929.
    UCSCi uc021oof.1. human.

    Organism-specific databases

    CTDi 29929.
    GeneCardsi GC01P063834.
    H-InvDB HIX0000661.
    HGNCi HGNC:23157. ALG6.
    MIMi 603147. phenotype.
    604566. gene.
    neXtProti NX_Q9Y672.
    Orphaneti 79320. ALG6-CDG.
    PharmGKBi PA134925619.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG287760.
    HOGENOMi HOG000195048.
    HOVERGENi HBG024331.
    KOi K03848.
    OrthoDBi EOG70088D.
    PhylomeDBi Q9Y672.
    TreeFami TF314522.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Miscellaneous databases

    ChiTaRSi ALG6. human.
    GeneWikii ALG6.
    GenomeRNAii 29929.
    NextBioi 52559.
    PROi Q9Y672.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y672.
    Bgeei Q9Y672.
    CleanExi HS_ALG6.
    Genevestigatori Q9Y672.

    Family and domain databases

    InterProi IPR004856. Glyco_trans_ALG6/ALG8.
    [Graphical view ]
    PANTHERi PTHR12413. PTHR12413. 1 hit.
    Pfami PF03155. Alg6_Alg8. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic."
      Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., Hennet T.
      Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CDG1C VAL-333.
    2. Mao Y.M., Xie Y., Zheng Z.H.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Fetal brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-304.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    7. "Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation."
      Westphal V., Murch S., Kim S., Srikrishna G., Winchester B., Day R., Freeze H.H.
      Am. J. Pathol. 157:1917-1925(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1C HIS-131; ARG-308 AND VAL-333.
    8. Cited for: VARIANTS CDG1C VAL-333 AND PRO-478, VARIANT SER-304.
    9. "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic."
      Westphal V., Schottstaedt C., Marquardt T., Freeze H.H.
      Mol. Genet. Metab. 70:219-223(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1C ILE-299 DEL, VARIANT SER-304.
    10. "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic."
      Vuillaumier-Barrot S., Le Bizec C., Durand G., Seta N.
      J. Hum. Genet. 46:547-548(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-304.
    11. Cited for: VARIANTS CDG1C ILE-170 AND LEU-444 DEL.
    12. "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)."
      Schollen E., Martens K., Geuzens E., Matthijs G.
      Eur. J. Hum. Genet. 10:643-648(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1C GLU-227.
    13. "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency."
      Westphal V., Kjaergaard S., Schollen E., Martens K., Gruenewald S., Schwartz M., Matthijs G., Freeze H.H.
      Hum. Mol. Genet. 11:599-604(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT SER-304.
    14. "Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic."
      Westphal V., Xiao M., Kwok P.-Y., Freeze H.H.
      Hum. Mutat. 22:420-421(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CDG1C HIS-131.

    Entry informationi

    Entry nameiALG6_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y672
    Secondary accession number(s): B3KMU2, Q5SXR9, Q9H3I0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 27, 2002
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3